University of Zagreb Medical School, Croatian Institute for Brain Research, Zagreb, Croatia.
Translational Neuroscience (Impact Factor: 0.72). 01/2011; 2(3):256-264.
Source: PubMed


Autism spectrum disorders (ASD) represent complex neurodevelopmental disorders characterized by impairments in reciprocal social interactions, abnormal development and use of language, and monotonously repetitive behaviors. With an estimated heritability of more than 90%, it is the most strongly genetically influenced psychiatric disorder of the young age. In spite of the complexity of this disorder, there has recently been much progress in the research on etiology, early diagnosing, and therapy of autism. Besides already advanced neuropathologic research, several new technological innovations, such as sleep functional MRI, diffusion tensor imaging (DTI) and proton magnetic resonance spectroscopy imaging ((1)H-MRS) divulged promising breakthroughs in exploring subtle morphological and neurochemical changes in the autistic brain. This review provides a comprehensive summary of morphological and neurochemical alterations in autism known to date, as well as a short introduction to the functional research that has begun to advance in the last decade. Finally, we mention the progress in establishing new standardized diagnostic measures and its importance in early recognition and treatment of ASD.

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    • "These neurobehavioral disorders are characterized by abnormalities in three behavioral domains including disturbances in social interaction, impaired communication skills, and repetitive stereotypic behaviors with an onset recognized prior to 3 years of age [2]. ASD includes not only classical autism (autistic disorder) but also asperger disorder (high functioning) and pervasive developmental disorder not otherwise specified (PDD-NOS) [2] [3] [4] [5] [6]. The American Academy of Pediatrics recommends autism screening of all infants and toddlers for early identification and intervention by at least 12 months of age and again at 24 months. "
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    ABSTRACT: Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of children and is on the rise with significant genetic mechanisms underlying these disorders. We review the current understanding of the role of genetic and metabolic factors contributing to ASD with the use of new genetic technology. Fifty percent is diagnosed with chromosomal abnormalities, small DNA deletions/duplications, single-gene conditions, or metabolic disturbances. Genetic evaluation is discussed along with psychiatric treatment and approaches for selection of medication to treat associated challenging behaviors or comorbidities seen in ASD. We emphasize the importance of prioritizing treatment based on target symptom clusters and in what order for individuals with ASD, as the treatment may vary from patient to patient.
    05/2012; 2012(4):242537. DOI:10.1155/2012/242537
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    ABSTRACT: Autism is a neurodevelopmental disorder characterized clinically by impairments in social interaction and verbal and non-verbal communication skills as well as restricted interests and repetitive behavior. It has been hypothesized that altered brain environment including an imbalance in neurotrophic support during early development contributes to the pathophysiology of autism. Here we report that sera from children with autism which exhibited abnormal levels of various neurotrophic factors induced cell death and oxidative stress in mouse primary cultured cortical neurons. The effects of sera from autistic children were rescued by pre-treatment with a ciliary neurotrophic factor (CNTF) small peptide mimetic, Peptide 6 (P6), which was previously shown to exert its neuroprotective effect by modulating CNTF/JAK/STAT pathway and LIF signaling and by enhancing brain derived neurotrophic factor (BDNF) expression. Similar neurotoxic effects and neuroinflammation were observed in young Wistar rats injected intracerebroventricularly with autism sera within hours after birth. The autism sera injected rats demonstrated developmental delay and deficits in social communication, interaction, and novelty. Both the neurobiological changes and the behavioral autistic phenotype were ameliorated by P6 treatment. These findings implicate the involvement of neurotrophic imbalance during early brain development in the pathophysiology of autism and a proof of principle of P6 as a potential therapeutic strategy for autism.
    PLoS ONE 03/2015; 10(3):e0118627. DOI:10.1371/journal.pone.0118627 · 3.23 Impact Factor
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    ABSTRACT: The authors present a rare case of primary intracranial leiomyosarcoma (LMS) in a young, immunocompetent boy. The patient presented with an expanding right forehead mass. Diagnostic workup revealed multiple large intracranial tumors. The largest mass was resected, and pathological analysis revealed LMS. Given the poor prognosis of this tumor, the family declined further care, and the child died 3 months later. Primary LMSs are extremely rare tumors in the pediatric population, especially in patients who are not immunocompromised.
    Journal of Neurosurgery Pediatrics 06/2012; 10(2):121-5. DOI:10.3171/2012.4.PEDS1216 · 1.48 Impact Factor
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